Variant report

Variant	rs7221536
Chromosome Location	chr17:38350730-38350731
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:38350624..38352152-chr17:38445589..38447387,2	K562	blood:
2	chr17:38348399..38350901-chr17:38351389..38353492,2	MCF-7	breast:
3	chr17:38349826..38352534-chr17:38443778..38445616,2	K562	blood:
4	chr17:38330070..38334400-chr17:38346938..38351108,4	K562	blood:
5	chr17:38343845..38346711-chr17:38349005..38352130,3	K562	blood:
6	chr17:38334977..38338913-chr17:38347829..38351366,4	MCF-7	breast:
7	chr17:38345427..38348504-chr17:38348993..38351022,3	MCF-7	breast:
8	chr17:38349831..38351927-chr17:38352533..38355067,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000094804	Chromatin interaction
ENSG00000108352	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs28786708	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34394173	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35085163	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs45443194	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55673000	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56304903	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56357916	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73306870	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833444	chr17:38242823-38437280	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv525796	chr17:38306365-38405037	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7221536	ENSG00000108352	cis	multi-tissue	Pritchard
rs7221536	MSL1	cis	Esophagus Muscularis	GTEx
rs7221536	MSL1	cis	Nerve Tibial	GTEx
rs7221536	MSL1	cis	Thyroid	GTEx

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38348000-38350800	Strong transcription	Sigmoid Colon	Sigmoid Colon
2	chr17:38348000-38351000	Weak transcription	Spleen	Spleen
3	chr17:38348000-38353400	Weak transcription	Aorta	Aorta
4	chr17:38348200-38350800	Strong transcription	Rectal Mucosa Donor 31	rectum
5	chr17:38348200-38351600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr17:38348200-38351600	Weak transcription	Right Ventricle	heart
7	chr17:38348200-38353200	Weak transcription	Thymus	Thymus
8	chr17:38348400-38351000	Strong transcription	Fetal Intestine Small	intestine
9	chr17:38348400-38351400	Weak transcription	NH-A	brain
10	chr17:38348400-38351600	Weak transcription	NHLF	lung
11	chr17:38348400-38352000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr17:38348400-38352000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr17:38348400-38352200	Weak transcription	Brain Substantia Nigra	brain
14	chr17:38348400-38354600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr17:38348400-38358200	Weak transcription	Adipose Nuclei	Adipose
16	chr17:38348400-38358400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr17:38348600-38350800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr17:38348600-38350800	Strong transcription	Esophagus	oesophagus
19	chr17:38348600-38351000	Weak transcription	Fetal Brain Male	brain
20	chr17:38348600-38351400	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr17:38348600-38358200	Weak transcription	HUVEC	blood vessel
22	chr17:38348600-38358200	Weak transcription	Osteobl	bone
23	chr17:38348800-38350800	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr17:38349000-38350800	Strong transcription	Brain Germinal Matrix	brain
25	chr17:38349000-38350800	Weak transcription	Fetal Thymus	thymus
26	chr17:38349000-38351400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr17:38349600-38351000	Enhancers	K562	blood
28	chr17:38349800-38350800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr17:38349800-38351200	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr17:38349800-38351400	Enhancers	Dnd41	blood
31	chr17:38349800-38351600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr17:38349800-38351600	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr17:38349800-38352400	Enhancers	Fetal Muscle Trunk	muscle
34	chr17:38350000-38350800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr17:38350000-38350800	Genic enhancers	Brain Inferior Temporal Lobe	brain
36	chr17:38350000-38351400	Enhancers	GM12878-XiMat	blood
37	chr17:38350000-38357400	Weak transcription	Placenta	Placenta
38	chr17:38350200-38350800	Weak transcription	Duodenum Mucosa	Duodenum
39	chr17:38350200-38350800	Genic enhancers	Fetal Stomach	stomach
40	chr17:38350200-38350800	Enhancers	Stomach Smooth Muscle	stomach
41	chr17:38350200-38351000	Enhancers	Muscle Satellite Cultured Cells	--
42	chr17:38350200-38351200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr17:38350200-38351200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr17:38350200-38351400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr17:38350200-38351400	Enhancers	A549	lung
46	chr17:38350200-38351400	Enhancers	HMEC	breast
47	chr17:38350200-38352000	Enhancers	HSMM	muscle
48	chr17:38350200-38352400	Enhancers	Stomach Mucosa	stomach
49	chr17:38350200-38352400	Enhancers	HepG2	liver
50	chr17:38350200-38352600	Enhancers	HSMMtube	muscle

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